A58D (p.Ala58Asp) variant of DNAH5 (Dynein axonemal heavy chain 5)
A58D (p.Ala58Asp) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Primary ciliary dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A58D (p.Ala58Asp) variant details
- p.Ala58Asp
- rs139252148
- ClinGen CA3205269
- ClinVar RCV003838277
- ESP rs139252148
- Likely benign
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.19
- MetaLR 0.08
- MetaSVM -0.99
- CADD 22.20
- PolyPhen-2 0.13
- SIFT 0.05
- ClinVar: Likely benign (Primary ciliary dyskinesia)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)